Reactome | CHSY1 Q69* [Golgi membrane]

CHSY1 Q69* [Golgi membrane]

Stable Identifier

R-HSA-3636838

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Chondroitin sulfate synthase 1, CHSS1_HUMAN

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External Reference Information

External Reference

UniProt:Q86X52 CHSY1

Gene Names

CHSY1, CHSY, CSS1, KIAA0990, UNQ756/PRO1487

Chain

chain:1-802

Reference Genes

BioGPS Gene:22856 CHSY1

COSMIC (genes):CHSY1 CHSY1

CTD Gene:22856 CHSY1

dbSNP Gene:22856 CHSY1

ENSEMBL:ENSG00000131873 CHSY1

HGNC:17198 CHSY1

KEGG:hsa:22856 CHSY1

Monarch:22856 CHSY1

NCBI Gene:22856 CHSY1

OMIM:608183 CHSY1

UCSC:Q86X52 CHSY1

Reference Transcript

RefSeq:NM_014918.4 CHSY1

Other Identifiers

11739359_a_at

11746565_a_at

11757950_s_at

203044_PM_at

203044_at

22856

3642086

3642087

3642088

3642089

3642090

3642106

3642107

3642108

3642109

3642111

3642120

3642121

3642122

3642123

3642124

3642125

3642126

3642128

3642129

3642134

3642136

41447_at

7991581

A_23_P37484

GE53642

GO:0000139

GO:0002063

GO:0003824

GO:0005576

GO:0005794

GO:0006790

GO:0008376

GO:0009954

GO:0016020

GO:0016740

GO:0016757

GO:0016758

GO:0030206

GO:0030279

GO:0031667

GO:0032580

GO:0043226

GO:0045880

GO:0046872

GO:0047238

GO:0048856

GO:0050510

GO:0051216

GO:0051923

GO:0060349

GO:1901135

HMNXSV003035135

ILMN_1791576

PH_hs_0029086

TC15002005.hg

g7662433_3p_at

Participates

as a member of

CHSY1 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

CHSY1 P539R [Golgi membrane]

CHSY1 E33Sfs*2 [Golgi membrane]

CHSY1 G19_L28del [Golgi membrane]

CHSY1 [Golgi membrane]

Modified Residues

Name

Nonsense mutation at L-glutamine 69

Coordinate

PsiMod

L-glutamine removal [MOD:01637]

A protein modification that effectively removes or replaces an L-glutamine.

Disease

Name	Identifier	Synonyms
brachydactyly	DOID:0050581

Cross References

ENSEMBL

ENSP00000254190, ENST00000254190

OpenTargets

ENSG00000131873

IntEnz

2.4.1.175

HPA

ENSG00000131873-CHSY1

PRO

Q86X52

Pharos - Targets

Q86X52

GlyGen

Q86X52

Orphanet

CHSY1

HMDB Protein

HMDBP01105

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P40855 PEX19	1	PEX19 [cytosol] (R-HSA-3009036)	0.527	2
UniProt:Q03405 PLAUR	7	PLAUR [endoplasmic reticulum membrane] (R-HSA-162703) GPI-PLAUR [endoplasmic reticulum membrane] (R-HSA-162687) PLAUR(306-335) [endoplasmic reticulum lumen] (R-HSA-162707) PLAUR(23-335) [endoplasmic reticulum membrane] (R-HSA-162866) GPI-PLAUR [plasma membrane] (R-HSA-158946) PLAUR [plasma membrane] (R-HSA-6806165) GPI-PLAUR [specific granule membrane] (R-HSA-6806143)	0.527	2
UniProt:Q70JA7 CHSY3	1	CHSY3 [Golgi membrane] (R-HSA-1971428)	0.527	4
UniProt:P07585 DCN	20	XylS-DCN [Golgi lumen] (R-HSA-2064097) Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064080) DCN [Golgi lumen] (R-HSA-2063995) Gal-Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064064) GlcA-Gal-Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064161) D2,4(S)2-DCN [Golgi lumen] (R-HSA-2065119) dermatan-DCN [Golgi lumen] (R-HSA-5607522) D4S-DCN [Golgi lumen] (R-HSA-2065089) D2,4,4(S)3-DCN [Golgi lumen] (R-HSA-2065069) chondroitin(3)-DCN [Golgi lumen] (R-HSA-2064025) C4S-DCN [Golgi lumen] (R-HSA-2064171) chondroitin(2)-DCN [Golgi lumen] (R-HSA-2063993) chondroitin(1)-DCN [Golgi lumen] (R-HSA-2064248) D2,4,4(S)3-DCN [extracellular region] (R-HSA-2065093) D2,4(S)2-DCN [extracellular region] (R-HSA-2065241) D4S-DCN [extracellular region] (R-HSA-2065254) C6S-DCN [Golgi lumen] (R-HSA-2064145) CSE-DCN [Golgi lumen] (R-HSA-2064056) C4S-DCN [extracellular region] (R-HSA-2064029) C6S-DCN [extracellular region] (R-HSA-2064182)	0.527	2
UniProt:Q8N6G5 CSGALNACT2	1	CSGALNACT2 [Golgi membrane] (R-HSA-1971506)	0.527	4
UniProt:P20036 HLA-DPA1	9	HLA class II histocompatibility antigen, DP alpha chain precursor [plasma membrane] (R-HSA-197586) HLA class II histocompatibility antigen, DP alpha chain precursor [lysosomal membrane] (R-HSA-2130639) HLA class II histocompatibility antigen, DP alpha chain precursor [endocytic vesicle membrane] (R-HSA-2130435) HLA class II histocompatibility antigen, DP alpha chain precursor [clathrin-coated endocytic vesicle membrane] (R-HSA-2130485) HLA class II histocompatibility antigen, DP alpha chain precursor [transport vesicle membrane] (R-HSA-2130648) HLA class II histocompatibility antigen, DP alpha chain precursor [trans-Golgi network membrane] (R-HSA-2130337) HLA class II histocompatibility antigen, DP alpha chain precursor [Golgi membrane] (R-HSA-2214387) HLA class II histocompatibility antigen, DP alpha chain precursor [ER to Golgi transport vesicle membrane] (R-HSA-2130739) HLA class II histocompatibility antigen, DP alpha chain precursor [lumenal side of endoplasmic reticulum membrane] (R-HSA-2130667)	0.527	2
UniProt:Q16322 KCNA10	1	KCNA10 [plasma membrane] (R-HSA-977480)	0.527	2

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